Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs13107325
rs13107325
24 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1426371
rs1426371
3 1.000 0.040 12 108236003 intron variant G/A snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs41279738
rs41279738
2 1 109539929 5 prime UTR variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs35682716
rs35682716
1 7 113381525 intergenic variant C/T snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs10749233
rs10749233
1 10 117018487 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11712037
rs11712037
1 3 12303231 intron variant C/G snv 9.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs7133378
rs7133378
6 12 123924955 intron variant G/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs1591805
rs1591805
3 1.000 0.040 6 126395918 intron variant A/G snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs972283
rs972283
2 1.000 0.080 7 130782095 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11223600
rs11223600
1 11 133848987 upstream gene variant C/T snv 6.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs4744546
rs4744546
1 9 134059622 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs80206917
rs80206917
1 7 140459589 intron variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs11205303
rs11205303
8 0.882 0.120 1 149934520 missense variant T/C snv 0.33 0.29 0.700 1.000 1 2019 2019
dbSNP: rs1464419
rs1464419
1 3 153973471 intron variant C/A snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs900399
rs900399
4 3 157080943 upstream gene variant A/G snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs11515071
rs11515071
1 9 15855547 intron variant C/T snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs2963469
rs2963469
1 5 158574301 intron variant A/T snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs1128249
rs1128249
9 1.000 0.080 2 164672114 intron variant G/C;T snv 0.700 1.000 2 2019 2019
dbSNP: rs6738627
rs6738627
2 2 164687940 intron variant G/A snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs571835655
rs571835655
2 16 17083253 non coding transcript exon variant G/A snv 6.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs10930502
rs10930502
2 2 172025679 intron variant A/G snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs543874
rs543874
8 1.000 0.080 1 177920345 upstream gene variant A/G snv 0.21 0.700 1.000 2 2016 2019
dbSNP: rs11666808
rs11666808
3 1.000 0.040 19 18272696 intron variant T/C snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs2192527
rs2192527
1 4 18328201 intergenic variant A/G snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs757318
rs757318
3 19 18709498 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016